Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554150607
rs1554150607
MEF2C
0.925 0.160 5 88823786 start lost C/G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 4 2009 2013
dbSNP: rs1553630279
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 3 1989 2017
dbSNP: rs1554041295
rs1554041295
ZSWIM6
0.925 0.160 5 61541917 stop gained C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2017 2017
dbSNP: rs112795301
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.710 1.000 0 2019 2019
dbSNP: rs1556024875
rs1556024875
THOC2
0.882 0.160 X 123634002 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs369691608
rs369691608
BCS1L ; ZNF142
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs397514627
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.710 1.000 0 2018 2018
dbSNP: rs45514095
rs45514095
TSC2
0.925 0.160 16 2085323 splice donor variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs730882202
rs730882202
CACNA1G
0.925 0.160 17 50571953 inframe deletion TTC/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs796053356
rs796053356
STXBP1
0.882 0.160 9 127663344 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs869025316
rs869025316
UNC80
0.925 0.160 2 209918616 missense variant C/T snv 3.8E-05 2.8E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs869025317
rs869025317
UNC80
0.925 0.160 2 209959707 missense variant G/C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs869025318
rs869025318
UNC80
0.925 0.160 2 209820379 frameshift variant A/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs869025319
rs869025319
UNC80
0.925 0.160 2 209967586 stop gained T/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs886041300
rs886041300
KCNH1
1.000 0.160 1 210920032 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1057521721
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2017 2017
dbSNP: rs797045140
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2016 2016
dbSNP: rs869312873
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2016 2016
dbSNP: rs1135401761
rs1135401761
AHDC1
0.925 0.200 1 27548302 stop gained G/A;C snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs796052056
rs796052056
TMEM70
0.882 0.240 8 73976397 frameshift variant -/GT delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 3 2008 2014
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2016 2016
dbSNP: rs1057518848
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0